Journal article
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
American journal of human genetics, Vol.88(5), pp.616-620
05/13/2011
DOI: 10.1016/j.ajhg.2011.04.005
PMCID: PMC3146735
PMID: 21549343
Abstract
Amelogenesis imperfecta (AI) describes a clinically and genetically heterogeneous group of disorders of biomineralization resulting from failure of normal enamel formation. AI is found as an isolated entity or as part of a syndrome, and an autosomal-recessive syndrome associating AI and gingival hyperplasia was recently reported. Using whole-exome sequencing, we identified a homozygous nonsense mutation in exon 2 of
FAM20A
that was not present in the Single Nucleotide Polymorphism database (dbSNP), the 1000 Genomes database, or the Centre d'Etude du Polymorphisme Humain (CEPH) Diversity Panel. Expression analyses indicated that
Fam20a
is expressed in ameloblasts and gingivae, providing biological plausibility for mutations in
FAM20A
underlying the pathogenesis of this syndrome.
Details
- Title: Subtitle
- Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
- Creators
- James O'Sullivan - Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester M13 9PT, UKCarolina C Bitu - Department of Oral Diagnosis, School of Dentistry, State University of Campinas, CEP 13414-018, Piracicaba, São Paulo, BrazilSarah B Daly - Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester M13 9PT, UKJill E Urquhart - Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester M13 9PT, UKMartin J Barron - Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester M13 9PT, UKSanjeev S Bhaskar - Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UKHercilio Martelli-Júnior - Stomatology Clinic, Dental School, University of Montes Claros, 39401-089, CP 126, Montes Claros, Minas Gerais, BrazilPedro Eleuterio dos Santos Neto - Stomatology Clinic, Dental School, University of Montes Claros, 39401-089, CP 126, Montes Claros, Minas Gerais, BrazilMaria A Mansilla - Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USAJeffrey C Murray - Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USARicardo D Coletta - Department of Oral Diagnosis, School of Dentistry, State University of Campinas, CEP 13414-018, Piracicaba, São Paulo, BrazilGraeme C.M Black - Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester M13 9PT, UKMichael J Dixon - Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Oxford Road, Manchester M13 9PT, UK
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.88(5), pp.616-620
- DOI
- 10.1016/j.ajhg.2011.04.005
- PMID
- 21549343
- PMCID
- PMC3146735
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Publisher
- Elsevier
- Language
- English
- Date published
- 05/13/2011
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Iowa Institute of Human Genetics
- Record Identifier
- 9984025347502771
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